儿童威廉斯综合征的临床特征和超声表现  

Clinical features and ultrasonographic findings of Williams syndrome in children

作　　者：袁文芳 陈文娟[1] 周梦洁[1] 李皓[1] Yuan Wenfang;Chen Wenjuan;Zhou Mengjie;Li Hao(Department of Ultrasound,Hunan Children′s Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院超声科,长沙410007

出　　处：《中国小儿急救医学》2022年第3期220-223,共4页Chinese Pediatric Emergency Medicine

摘　　要：目的分析儿童威廉斯综合征的临床特点及主要的超声表现,探讨超声对该疾病的诊断价值。方法回顾性分析2016年1月至2020年12月湖南省儿童医院收治的通过超声心动图检查并结合美国儿科学会威廉斯综合征表型评分标准,筛选出的可疑威廉斯综合征患儿19例为研究对象,行心脏CT及基因检测,分析其临床资料及超声图像特点。结果19例患儿中,威廉斯综合征评分均≥6分,临床高度可疑。19例患儿超声心动图发现主动脉瓣上狭窄及肺动脉狭窄最多见(63.2%,12/19),其中3例合并主动脉弓缩窄,1例合并二尖瓣瓣叶畸形。主动脉瓣上狭窄伴肺动脉流速增高占15.8%(3/19),左右肺动脉分支狭窄伴主动脉内径偏窄占10.5%(2/19)。42.1%(8/19)的患儿合并其他心脏畸形。68.4%(13/19)的患儿基因检测7号染色体微缺失,3例基因检测无异常(15.8%,3/19),3例基因结果仍在随访中。结论超声心动图能准确、灵敏地发现威廉斯综合征患儿的心脏病变,结合美国儿科学会威廉斯综合征评分能更好地提高威廉斯综合征的诊断率。Objective To analyze the clinical features and ultrasonographic features of Williams syndrome(WS)in children,and to explore the diagnostic value of ultrasonography in this disease.Methods A retrospective analysis was performed on 19 children with abnormal echocardiography at Hunan Children′s Hospital from January 2016 to December 2020,and the abnormal echocardiography was evaluated by WS phenotypic scoring method of American Academy of Pediatrics.Cardiological CT and genetic tests were performed,and the clinical data and ultrasound image characteristics were analyzed.Results The WS score of 19 cases was more than six,which was highly suspicious clinically.In 19 cases,supra-aortic stenosis and pulmonary stenosis were the most common findings on echocardiography,accounting for 63.2%(12/19),among which three cases were complicated with aortic arch constriction and one case with mitral lobe deformity.There were 15.8%(3/19)children with supra-aortic stenosis associated with pulmonary artery velocity increase,and 10.5%(2/19)children with left and right pulmonary artery branch stenosis associated with aortic inner diameter narrowing.Other cardiac malformations were found in 42.1%(8/19)of the children.Chromosome 7 microdeletions accounted for 68.4%(13/19)in genetic examination,and no abnormalities were found in three cases(15.8%,3/19).The genetic results of three cases were still under follow-up.Conclusion Echocardiography can accurately and sensitively detect cardiac lesions in children with WS.Combined with WS score of American Academy of Pediatrics,the diagnosis rate of WS can be improved.

关 键 词：儿童 威廉斯综合征 超声心动图 

分 类 号：R445.1[医药卫生—影像医学与核医学] R725.9[医药卫生—诊断学]